Results 41 to 50 of about 21,507,917 (245)

Clinical epidemiological characterization of patients with types A and B congenital hemophilia in Santiago de Cuba

open access: yesMedisan, 2022
Introduction: The hemophilia is a disease of genetic origin, linked to  chromosome X that affects the natural capacity of the blood to form a clot, due to the absence, decrease or a defective operation of the factors VIII and IX, hence the types A and B,
Haron Fernández Alvarez
doaj  

Hemofilia

open access: yesMedicinus, 2018
Hemophilia A and B are X-linked recessive diseases that are caused by gene mutations in factors VIII adan IX of the blood clotting cycle. Hemophilia C is an autosomal recessive disease caused by a mutation in factor XI, and acquired hemophilia is largely is an autoimmune process.
Michael Susanto, Andree Kurniawan
openaire   +2 more sources

Faktor Risiko Non-genetik Inhibitor Faktor VIII pada Pasien Hemofilia A

open access: yesSari Pediatri, 2016
Latar belakang. Terbentuknya inhibitor atau antibodi terhadap FVIII pada pasien hemofilia A menyebabkan FVIII eksogen yang diberikan tidak dapat berfungsi. Penyebab bersifat multifaktorial terdiri atas faktor genetik dan lingkungan.
Ahmad Saifudin   +2 more
doaj   +1 more source

Hemofilia adquirida asociada a la infección por SARS-CoV2

open access: yesGalicia Clínica, 2022
SARS-CoV2 infection has been found to be associated with coagulopathy. Although thrombotic complications have been more frequently reported, hematologic autoimmune disorders have also been described.
Catarina Medeiros   +3 more
doaj   +1 more source

Atención dental en pacientes diagnosticados con hemofilia grave a con presencia de inhibidores

open access: yesRevista Científica Especialidades Odontológicas UG, 2020
Enfermedad genética recesiva, cuyo gen está asociado con el cromosoma sexual X, caracterizada por la deficiencia de algunos factores de coagulación. La hemofilia A se clasifica como deficiencia de factor FVIII, hemofilia B (FIX), hemofilia C (FXI), que ...
Andrea Caiza Rennella   +3 more
doaj   +1 more source

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

open access: yesHuman Mutation, Volume 41, Issue 12, Page 2058-2072, December 2020., 2020
Abstract In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier and prenatal diagnosis and prediction of risk for the development of inhibitors. The PedNet Registry collects clinical, genetic, and phenotypic data prospectively on more than 2000 children with hemophilia.
Nadine G. Andersson   +10 more
wiley   +1 more source

Determining meaningful health‐related quality‐of‐life improvement in persons with haemophilia A using the Haemophilia Quality of Life Questionnaire for Adults (Haem‐A‐QoL)

open access: yesHaemophilia, Volume 26, Issue 6, Page 1019-1030, November 2020., 2020
Abstract Introduction The Haem‐A‐QoL is frequently utilized in haemophilia clinical trials and captures relevant aspects of disease impact. Thresholds for some domains ‘Physical Health’ (PH), ‘Sports & Leisure’ (S&L) and ‘Total Score’ (TS) have previously been identified to benchmark the amount of change that is meaningful to patients, but not been ...
Sylvia von Mackensen   +5 more
wiley   +1 more source

Profilaxis en personas con hemofilia A y B. Experiencia de cinco años

open access: yesRevista Colombiana de Hematología y Oncología, 2022
Introducción: la hemofilia es una condición médica que conduce a un defecto hemostático, con manifestaciones clínicas que se presentan en los casos severos desde el primer año de vida.
Luis Eduardo Pino Villareal   +4 more
semanticscholar   +1 more source

Molecular characterization of hemophilia B patients in Colombia

open access: yesMolecular Genetics &Genomic Medicine, Volume 8, Issue 5, May 2020., 2020
This is the first molecular characterization of patients with Hemophilia B in Colombia. Using Sanger sequencing we found the patogenic variant in all patients. One large deletion of exon 3 and 4 hasn't been reported previously in international databases.
Yolima A. Parrado Jara   +3 more
wiley   +1 more source

Abordagem fisioterápica na dor e na qualidade de vida de um indivíduo com artrite hemofílica. Relato de caso

open access: yesRevista Dor, 2016
RESUMO JUSTIFICATIVA E OBJETIVOS: A hemofilia é uma coagulopatia congênita, rara e crônica, caracterizada pelos surtos recidivantes de hemartroses.
Matheus Santos Gomes Jorge   +3 more
doaj   +2 more sources

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